| Variant ID | 34386 |
|---|---|
| Entrez Gene ID | 3360 |
| Gene | HTR4 (GeneCards) |
| Location | hg19 5:147858961-147858961
hg38 5:148479398-148479398 |
| Disease | Asymptomatic |
| Method | Whole Genome Sequencing Ion Torrent PGM Sequencing |
| Mutation(HGVS format) | NC_000005.9:g.147858961 C>T (Genome Assembly: hg19) |
| Exon or Intron | intron |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.688 |
| CADD Raw score (version 1.3) | 1.112143 (Deleterious) |
| FATHMM raw prediction score | 0.80152 (Tolerated) |
| Deleterious probability by DeFine | 0.715 (Deleterious) |
| Entrez Gene ID | 3360 (NCBI Gene) |
|---|---|
| Official Gene Symbol | HTR4 (GeneCards) |
| Number of variants in HTR4 in this database | 7 (view all the variants) |
| Full name | 5-hydroxytryptamine receptor 4 |
| Band | 5q32 |
| Other IDs | Vega: OTTHUMG00000129931 OMIM: 602164 HGNC: HGNC:5299 Ensembl: ENSG00000164270 |
| Other names | 5-HT4, 5-HT4R |
| Summary | This gene is a member of the family of serotonin receptors, which are G protein coupled receptors that stimulate cAMP production in response to serotonin (5-hydroxytryptamine). The gene product is a glycosylated transmembrane protein that functions in both the peripheral and central nervous system to modulate the release of various neurotransmitters. Multiple transcript variants encoding proteins with distinct C-terminal sequences have been described. [provided by RefSeq, May 2010] |
| Individual ID | 24760347.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 24760347 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 24760347 |
|---|---|
| Title | Somatic mutations found in the healthy blood compartment of a 115-yr-old woman demonstrate oligoclonal hematopoiesis |
| Journal | Genome Research |
| Publication date | 2014.04 |
| Disease | Asymptomatic |
| Number of cases | Female cases: 1; |